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Functional characterization of the novel GWAS-identified GP2 coding variant

ABSTRACT: In a meta-analysis of three GWASs in the Japanese population, we identified a novel locus at 16p12.3 significantly associated with pancreatic cancer susceptibility. A series of experiments were performed to explore the functional impact of the nonsynonymous lead SNP rs78193826 of the GP2 gene at 16p12.3 on global gene expression. Based on CRISPR-Cas9-induced mutation, RNA-seq, and GSEA analyses, we demonstrated that the functional relevance of rs78193826 may involve modulation of KRAS activity.

ORGANISM(S): Homo sapiens

PROVIDER: GSE147368 | GEO | 2020/05/14

REPOSITORIES: GEO

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